Acute monophasic erythromelalgia pain in five children diagnosed as small-fiber neuropathy.
Acute
Child
Dysimmune
Erythromelalgia
Monophasic
Small-fiber neuropathy
Journal
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
ISSN: 1532-2130
Titre abrégé: Eur J Paediatr Neurol
Pays: England
ID NLM: 9715169
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
received:
22
10
2019
revised:
01
05
2020
accepted:
08
06
2020
pubmed:
30
7
2020
medline:
13
1
2021
entrez:
30
7
2020
Statut:
ppublish
Résumé
The small-fiber polyneuropathies (SFN) are a class of diseases in which the small thin myelinated (Aδ) and/or unmyelinated (C) fibers within peripheral nerves malfunction and can degenerate. SFN usually begins in the farthest, most-vulnerable axons, so distal neuropathic pain and symptoms from microvascular dysregulation are common. It is well known in adults, e.g. from diabetes, human immunodeficiency virus, or neurotoxins, but considered extremely rare in children, linked mostly with pathogenic genetic variants in voltage-gated sodium channels. However, increasing evidence suggests that pediatric SFN is not rare, and that dysimmunity is the most common cause. Because most pediatric neurologists are unfamiliar with SFN, we report the diagnosis and management of 5 Swiss children, aged 6-11y, who presented with severe paroxysmal burning pain in the hands and feet temporarily relieved by cooling-the erythromelalgia presentation. Medical evaluations revealed autoimmune diseases in 3 families and 3/5 had preceding or concomitant infections. The standard diagnostic test (PGP9.5-immunolabeled lower-leg skin biopsy) confirmed SFN diagnoses in 3/4, and autonomic function testing (AFT) was abnormal in 2/3. Blood testing for etiology was unrevealing, including genetic testing in 3. Paracetamol and ibuprofen were ineffective. Two children responded to gabapentin plus mexiletine, one to carbamazepine, two to mexiletine plus immunotherapy (methylprednisolone/IVIg). All recovered within 6 months, remaining well for years. These monophasic tempos and therapeutic responses are most consistent with acute post-infectious immune-mediated causality akin to Guillain-Barré large-fiber polyneuropathy. Skin biopsy and AFT for SFN, neuropathic-pain medications and immunotherapy should be considered for acute sporadic pediatric erythromelalgia.
Identifiants
pubmed: 32723684
pii: S1090-3798(20)30112-4
doi: 10.1016/j.ejpn.2020.06.004
pmc: PMC10021072
mid: NIHMS1881227
pii:
doi:
Substances chimiques
Analgesics
0
Neuroprotective Agents
0
Voltage-Gated Sodium Channel Blockers
0
Methylprednisolone
X4W7ZR7023
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
198-204Subventions
Organisme : NINDS NIH HHS
ID : K24 NS059892
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS042866
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS093653
Pays : United States
Informations de copyright
Copyright © 2020 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors have no conflicts of interest relevant to this article to disclose.
Références
Eur J Neurol. 2010 Jul;17(7):903-12, e44-9
pubmed: 20642627
Clin Exp Rheumatol. 1997 Jan-Feb;15(1):111-3
pubmed: 9093785
J Neurol. 2016 Dec;263(12):2515-2527
pubmed: 27730378
Neurology. 2020 Dec 1;95(22):1005-1014
pubmed: 33055271
Rheumatology (Oxford). 2012 Dec;51(12):2295-6
pubmed: 22718865
Eur J Neurol. 2018 Feb;25(2):348-355
pubmed: 29112785
Pediatrics. 2016 Oct;138(4):
pubmed: 27660061
Intern Med. 2014;53(19):2185-200
pubmed: 25274229
Neuromuscul Disord. 2009 Jan;19(1):49-52
pubmed: 19056270
Neurology. 2013 Oct 8;81(15):1356-60
pubmed: 23997150
Pediatr Int. 2015 Aug;57(4):706-8
pubmed: 26315201
J Neurol Neurosurg Psychiatry. 2019 Mar;90(3):342-352
pubmed: 30554136
Am J Med Sci. 2008 Apr;335(4):320-2
pubmed: 18414074
Trends Mol Med. 2005 Dec;11(12):555-62
pubmed: 16278094
Can J Pain. 2020;4(1):19-29
pubmed: 32719824
J Pediatr. 1999 Aug;135(2 Pt 1):257-60
pubmed: 10431124
Mayo Clin Proc. 2006 Aug;81(8):1001
pubmed: 16901020
J Am Acad Dermatol. 2006 Sep;55(3):519-22
pubmed: 16908366
J Med Genet. 2004 Mar;41(3):171-4
pubmed: 14985375
J Clin Neuromuscul Dis. 2017 Sep;19(1):31-37
pubmed: 28827487
JAMA Neurol. 2019 Oct 01;76(10):1240-1251
pubmed: 31498378
Sci Adv. 2019 Oct 23;5(10):eaax4755
pubmed: 31681845
Muscle Nerve. 2020 Jun;61(6):791-796
pubmed: 32133669
J Neurol Neurosurg Psychiatry. 2015 Dec;86(12):1347-55
pubmed: 25628376
Neurology. 2009 Jan 13;72(2):177-84
pubmed: 19056667
J Neurol Neurosurg Psychiatry. 2002 Apr;72(4):540-2
pubmed: 11909922
Eur J Neurol. 2014;21(1):135-9
pubmed: 24102827
Brain. 2008 Jul;131(Pt 7):1912-25
pubmed: 18524793
J Clin Neuromuscul Dis. 2019 Mar;20(3):103-110
pubmed: 30801480
Klin Padiatr. 1999 Nov-Dec;211(6):469-72
pubmed: 10592930
J Peripher Nerv Syst. 2006 Mar;11(1):47-52
pubmed: 16519781
Pediatrics. 2013 Apr;131(4):e1091-100
pubmed: 23478869
Brain. 2003 Mar;126(Pt 3):567-78
pubmed: 12566278
N Engl J Med. 2018 Jul 05;379(1):96
pubmed: 29975035
JAMA Dermatol. 2017 Feb 01;153(2):162-167
pubmed: 27926760
Klin Padiatr. 2012 Sep;224(5):309-12
pubmed: 22170168
Muscle Nerve. 2015 Apr;51(4):514-21
pubmed: 25091433
J Am Acad Dermatol. 2012 Mar;66(3):416-23
pubmed: 21798623
Neurology. 2001 Jan 9;56(1):82-6
pubmed: 11148240
J Invest Dermatol. 2002 Apr;118(4):699-703
pubmed: 11918719
Semin Pediatr Neurol. 2013 Mar;20(1):35-43
pubmed: 23465773
Muscle Nerve. 2020 Feb;61(2):173-181
pubmed: 31749205
Muscle Nerve. 2018 Feb;57(2):320-324
pubmed: 28667708
Ann Saudi Med. 2009 Jul-Aug;29(4):316-8
pubmed: 19584578
J Clin Neuromuscul Dis. 2014 Jun;15(4):147-51
pubmed: 24872212
Pain Med. 2013 Feb;14(2):311-2
pubmed: 23368881
Trials. 2016 Jul 20;17(1):330
pubmed: 27439408
Ther Adv Neurol Disord. 2018 Jan 08;11:1756285617744484
pubmed: 29403541
Immunol Res. 2017 Feb;65(1):106-116
pubmed: 27503625
Clin Neurophysiol Pract. 2016 Jul 27;1:43-45
pubmed: 30214959
J Child Neurol. 2012 Jul;27(7):922-3
pubmed: 22156790
Neurol Genet. 2017 Dec 15;3(6):e207
pubmed: 29264398
Anesth Analg. 2007 Feb;104(2):438-41
pubmed: 17242106
Arch Dermatol. 2003 Oct;139(10):1337-43
pubmed: 14568838
J Clin Neuromuscul Dis. 2016 Sep;18(1):37-40
pubmed: 27552388
Int J Obes (Lond). 2014 Sep;38 Suppl 2:S48-56
pubmed: 25219411